Canonical Allele Identifier: CA5539152

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs756032276
• ExAC: 10:72360655 C / CA
• gnomAD v2: 10-72360655-C-CA
• gnomAD v4: 10-70600899-C-CA
• MyVariant Identifiers: chr10:g.72360655_72360656insA (hg19) ; chr10:g.70600899_70600900insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600899_70600900insA , CM000672.2:g.70600899_70600900insA	GRCh38
NC_000010.10:g.72360655_72360656insA , CM000672.1:g.72360655_72360656insA	GRCh37
NC_000010.9:g.72030661_72030662insA	NCBI36
NG_009615.1:g.6876_6877insT , LRG_94:g.6876_6877insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1815_*17+1816insA (PALD1)	ENSP00000513342.1:n.*17+1815_*17+1816insA
ENST00000697572.1:c.2250+36380_2250+36381insA (PALD1)	ENSP00000513343.1:n.2250+36380_2250+36381insA
ENST00000697573.1:c.*17+1815_*17+1816insA (PALD1)	ENSP00000513344.1:n.*17+1815_*17+1816insA
ENST00000697577.1:n.2919+1815_2919+1816insA (PALD1)
ENST00000697578.1:n.2763+1815_2763+1816insA (PALD1)
ENST00000441259.2:c.3_4insT (PRF1) MANE Select	ENSP00000398568.1:p.Ala2CysfsTer?
ENST00000638674.1:c.3_4insT (PRF1)	ENSP00000492048.1:p.Ala2CysfsTer?
ENST00000639390.1:n.97+1745_97+1746insT (PRF1)
ENST00000373209.2:c.3_4insT (PRF1)	ENSP00000362305.1:p.Ala2CysfsTer?
ENST00000441259.1:c.3_4insT (PRF1)	ENSP00000398568.1:p.Ala2CysfsTer?
NM_001083116.1:c.3_4insT , LRG_94t1:c.3_4insT (PRF1)	NP_001076585.1:p.Ala2CysfsTer?
NM_005041.4:c.3_4insT (PRF1)	NP_005032.2:p.Ala2CysfsTer?
NM_001083116.2:c.3_4insT (PRF1)	NP_001076585.1:p.Ala2CysfsTer?
NM_005041.5:c.3_4insT (PRF1)	NP_005032.2:p.Ala2CysfsTer?
NM_001083116.3:c.3_4insT (PRF1) MANE Select	NP_001076585.1:p.Ala2CysfsTer?
NM_005041.6:c.3_4insT (PRF1)	NP_005032.2:p.Ala2CysfsTer?